Result of inversion detection of intron 1 and intron 22. a) LD-PCR result of intron 22 inversion. Wild type has two band with PQ segment (12 KB) and AB segment (10 KB). With intron 22 rearrangement, PQ segment will be interrupted so that PB and AQ (both 11 KB) form. That is why we can see all three bands in carrier. Patient will show only 11 KB and 10 KB bands. Patient 154 is proved to be an affected case. M, marker. C, carrier. P, known affected male patient. WT, wild type. b) PCR result of intron 1 inversion. Set 1 is the product of primer 9F, int-2F and 9CR. In wild type, the only segment amplified is 1908 bp. In the affected male patient with intron 1 inversion, the amplified segment is 1323 bp in length. c) Set 2 is the product of primer 9F, int-2F and 2R. 93-2, 104-1 and 104-2 are normal. 93-1 is proved to be an affected case. 93-3 is a carrier with heterogenous components.